Factors affecting quality of life in children and adolescents with hypermobile Ehlers-Danlos syndrome

Factors affecting the quality of life in children and adolescents with hypermobile Ehlers-Danlos syndrome and other hypermobility spectrum disorders.

This journal article was sourced to inform clinical practice for an existing case with details as follows:


  • Hypermobile Ehlers-Danlos Syndrome (hEDS).
  • Hypermobility spectrum disorder (HSD).

Impairments; Holistic Approach / Quality of Life (Qol)

  • Physical capacity.
  • Emotional wellbeing.
  • Social wellbeing.
  • Sleep patterns.
  • Schooling experience.
  • Psychosocial functioning.
  • Perception of illness.

What is hEDS & HSD?

  • Hereditary connective tissue disorder.
  • Complex symptoms and co-morbidities.
  • Genetic condition that mainly affects a person’s joints, skin and the walls of their blood vessels.
  • hEDS was previously indistinguishable from ‘joint hypermobility syndrome’ and was diagnosed as HSD prior to its revision in 2017.

How was QoL assessed?

  • Pediatric Quality of Life Inventory.
  • PedsQL Multidimensional Fatigue Scale.
  • Functional Disability Inventory.
  • Pain Frequency Severity Duration Scale.
  • Brief Illness Perception Questionnaire.
  • Measures of anxiety and depression using the Delphi method.

Main Findings

  • Participants with hEDS/HSD had lower overall PedsQL scores when compared to the healthy population.
  • Significantly deficient physical and emotional subscores and increased fatigue.
  • Lower PedsQL social score was associated with psychiatric diagnosis and older age.
  • Increased Functional impairment was associated with MCAS (mast cell activation syndrome) diagnosis, POTS (postural orthostatic tachycardia syndrome) diagnosis, headaches, psychiatric or neurosurgical diagnosis.
Doctor wearing blue gloves holding young patients hands
Image Description: Doctor wearing blue gloves holding young patients hands.

Methodology Review

  • Retrospective Review (Research gathered from 2004-2017, published in 2019).
  • Ethnography Research (Survey Based/ Qualitative).
  • Small sized, cross-sectional analysis.
  • Inclusion criteria: 10-18 years old and have a Beighton score of 4/9 or above with a diagnosis of either hEDS or HDS.
  • 220 registered participants, only 22% (48 children/adolescence) completed the survey’s sufficiently & were directly affected by hEDS/HSD. *Research also looked at parents of affected children/adolescents.
  • 81% Female & 19% Male with a Mean age of 16.1years.
  • 3% also had at least one affected sibling.

Physical Therapy & Symptom treatment

  • Physical Therapy was the most tried (89%) and helpful (74%) form of treatment for those with hEDS/HSD.
  • Secondly, Psychological Counselling and 504 plans for assistance in schooling environments.
  • Benefits of physical therapy for young kids as they continue to grow with rapid change in bone, tissue and muscle.

Characteristics of hEDS

  • Joint hypermobility and instability.
  • Recurrent joint subluxations/dislocations.
  • Chronic and widespread joint pain.
  • Skin manifestations.
  • Migraines.
  • Headaches.
  • Functional bowel disorders.
  • Orthostatic intolerances (such as POTS).
  • Chronic fatigue.
Child has sore sick throat
Image Description: Child is holding his neck in pain. They have curly, short, brown hair. They are wearing a multi-coloured red, blue and navy checked shirt.

Practical Application and Take Home

  • Delayed diagnosis: 2-3 years from symptom onset to formal diagnosis.
  • Poor quality of life and co-morbidities for children and young adults, increased need for multidisciplinary care in early stages of life.
  • Misdiagnosis, treatment of symptoms and lifelong co-morbidity experience.
  • MCAS (Mast cell activation syndrome / anaphylaxis) and POTS (postural orthostatic tachycardia syndrome) commonly diagnoses with hEDS/HSD.
  • Still little study into the pediatric and young adult experience.

Journal Article: Am J Med Genet A. 2019 April ; 179(4): 561–569. doi:10.1002/ajmg.a.61055.